Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64616037C= , CM000670.2:g.64616037C= | GRCh38 |
| NC_000008.10:g.65528594C= , CM000670.1:g.65528594C= | GRCh37 |
| NC_000008.9:g.65691148C= | NCBI36 |
| NG_008338.1:g.187755G= | |
| NG_008338.2:g.187755G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.504G= MANE Select | ENSP00000310721.3:p.Gln168= | |
| ENST00000310193.3:c.504G= | ENSP00000310721.3:p.Gln168= | |
| NM_004820.3:c.504G= | NP_004811.1:p.Gln168= | |
| NM_001324112.1:c.504G= | NP_001311041.1:p.Gln168= | |
| NM_004820.4:c.504G= | NP_004811.1:p.Gln168= | |
| XM_017014002.1:c.570G= | XP_016869491.1:p.Gln190= | |
| NM_004820.5:c.504G= MANE Select | NP_004811.1:p.Gln168= | |
| NM_001324112.2:c.504G= | NP_001311041.1:p.Gln168= |